血管舒缓素基因D19S246重复序列多态性与新疆哈萨克族原发性高血压  

Kallikrein Gene D19S246 Repeat Sequence Polymorphisms and Essential Hypertension in Kazakans of Xinjiang

作　　者：姚晓光[1] 李南方[1] 左君丽[1] 

机构地区：[1]新疆维吾尔自治区人民医院高血压科新疆维吾尔自治区高血压研究所,乌鲁木齐830001

出　　处：《科学技术与工程》2007年第21期5489-5492,共4页Science Technology and Engineering

基　　金：国家自然科学基金资助项目(30260038;30240045)资助

摘　　要：探讨了血管舒缓素(kallikrein,KLK)基因D19S246重复序列多态性与原发性高血压(essential hypertension,EH)的关系。应用PCR扩增、毛细管电泳和Genetic Profiler自动分析软件进行微卫星基因组扫描分析,选取新疆哈萨克族EH患者196例,正常血压者94例,检测KLK基因D19S246重复序列多态性。KLK基因D19S246重复序列存在11种等位基因,分布符合Hardy-Weinberg平衡,扩增片段长度为205 bp的A6等位基因最常见。该位点杂合度为0.813,多态信息量为0.809。D19S246重复序列多态性在哈萨克族EH组和对照组的分布无显著差异(χ2=9.097,P=0.523)。结果显示KLK基因D19S246重复序列多态性可能与哈萨克族EH不相关。To investigate the relationship between the D19S246 repeat sequence locus at tissue kallikrein（KLK） gene and essential hypertension（EH） in Kazaks of Xinjiang,a population-based case-control study was carried out.290 samples,including 196 hypertensives and 94 normaltensive Kazaks were randomly collected.Then D19S246 repeat sequence polymorphisms of kallikrein gene were identified by polymerase chain reaction（PCR） with fluorescence labeled primers,capillary electrophoretic and automatic analysis Genetic Profiler for microsatellite Genescan.Allele was separated by fragment length.There were 11 kinds of alleles ranging from 177 bp to 225 bp existed on the D19S246 locus at KLK gene.The frequencies were from 0.009 to 0.279.The allele A6 was the most frequent in the whole Kazaks,the next was A2 and A7.All of the allele frequency distribution in this study were in Hardy-Weinberg equilibrium.The heterozygosity of D19S246 repeat locus was 0.813,and the polymorphic information content（PIC） was 0.809.In this study,there was no significant difference between cases and controls.（χ^2=9.097,P=0.523）.The results suggest that the D19S246 repeat sequence polymorphism at KLK gene may not relate to the essential hypertension of Kazaks in Xinjiang.

关 键 词：血管舒缓素 D19S246重复序列多态性 原发性高血压 哈萨克族 

分 类 号：R544.1[医药卫生—心血管疾病]